Variant report

Variant	esv2760160
Chromosome Location	chr10:25473747-25496153
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:25495942..25497943-chr10:25499696..25501311,2	K562	blood:
2	chr10:25495466..25497442-chr10:25499395..25501311,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ENKUR-5	chr10:25487007-25488838	refGeneNc_2728_NR_027333

Extended variants
information (count: 352 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7902783	chr10:25473747-25473748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79897235	chr10:25473784-25473785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556037798	chr10:25473785-25473786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189109232	chr10:25473812-25473813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540693381	chr10:25473866-25473867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200576220	chr10:25473868-25473869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536633085	chr10:25473898-25473899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553426004	chr10:25473924-25473925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7918295	chr10:25473928-25473929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs77567456	chr10:25474027-25474028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7903171	chr10:25474028-25474029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559241866	chr10:25474099-25474100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7906676	chr10:25474101-25474102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs544817189	chr10:25474105-25474106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560803294	chr10:25474126-25474127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549142632	chr10:25474143-25474144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562790409	chr10:25474171-25474172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113353632	chr10:25474200-25474201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539816876	chr10:25474225-25474226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559724127	chr10:25474299-25474300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376285317	chr10:25474318-25474319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181040221	chr10:25474364-25474365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552045580	chr10:25474410-25474411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138915669	chr10:25474413-25474414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531385142	chr10:25474445-25474446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114893382	chr10:25474474-25474475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531874971	chr10:25474481-25474482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377146628	chr10:25474488-25474489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567625888	chr10:25474491-25474492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536747036	chr10:25474550-25474551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187163717	chr10:25474603-25474604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566860995	chr10:25474612-25474613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539080837	chr10:25474623-25474624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558963299	chr10:25474664-25474665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575925829	chr10:25474669-25474670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75955266	chr10:25474677-25474678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539086264	chr10:25474701-25474702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190640980	chr10:25474708-25474709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574151697	chr10:25474724-25474725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143919825	chr10:25474731-25474732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566559087	chr10:25474739-25474740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559857832	chr10:25474751-25474752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576428757	chr10:25474786-25474787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545812579	chr10:25474813-25474814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562625688	chr10:25474834-25474835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370233583	chr10:25474838-25474839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148638090	chr10:25474868-25474869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548032913	chr10:25474892-25474893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561929218	chr10:25474933-25474934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527522023	chr10:25475019-25475020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25467600-25475200	Weak transcription	Brain Anterior Caudate	brain
2	chr10:25480600-25481000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:25481000-25481200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr10:25481200-25485200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr10:25485200-25486200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr10:25487000-25487400	Enhancers	Fetal Brain Male	brain
7	chr10:25495800-25496600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr10:25496000-25496600	Enhancers	H9 Cell Line	embryonic stem cell

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